RGD:155992534 Rat Genome Database

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Variant: RGD:155992534 -  Homo sapiens

RGD ID: 155992534
ClinVar ID: CV2286206
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASB18  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 237,172,796
GRCh38 2 236,264,153
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_212556.4:c.193G>A
NG_053045.1:g.5193G>A
NC_000002.12:g.236264153C>T
NC_000002.11:g.237172796C>T
More... 		12/14/2021 missense variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ASB18
Accession:NM_212556
Location:EXON
Amino Acid Prediction: G to S (nonsynonymous)
Amino Acid Position: 65
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSNSDYLPDYPLNSDLVKRLKSALDAKDEERVRDLICTEITPVDAVIELANDDWMKDPSAQLPTSMLLGDLDHLKPLMDQ
FFQDANVVFEINKDEMEWQVKSPATFGLSGLWTLEYKRELTTPLCIAAAHGHTACVRHLLGRGADPDASPGGRGALHEAC
LGGHTACVRLLLQHRADPDLLSAEGLAPLHLCRTAASLGCAQALLEHGASVQRVGGTGRDTPLHVAAQRGLDEHARLYLG
RGAHVDARNGRGETALSAACGAARRPDEHGRCLRLCALLLRRGAEADARDEDERSPLHKACGHASHSLARLLLRHGADAG
ALDYGGASPLGRVLQTASCALQASPQRTVQALLNHGSPTVWPDAFPKVLKTCASVPAVIEVLFNSYPQLCLSESWKEVIP
EEVFQMHKPFYQSLFALALTPRCLQHLCRCALRRLFGKRCFDLIPLLPLPKPLQNYLLLEPQGVLH*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002864632 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene ASB18 CLINVAR